Mutagenetix > Incidental Mutation

Incidental Mutation 'RF005:5430401F13Rik'

602747

Institutional Source

Beutler Lab

Gene Symbol

5430401F13Rik

Ensembl Gene

ENSMUSG00000094113

Gene Name

RIKEN cDNA 5430401F13 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

RF005 (G1)

Quality Score

167.468

Status

Not validated

Chromosome

Chromosomal Location

131486400-131553763 bp(+) (GRCm38)

Type of Mutation

small insertion (9 aa in frame mutation)

DNA Base Change (assembly)

AGAAAGGAAAAGGTGGCCAG to AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG at 131552884 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075020] [ENSMUST00000161385]

AlphaFold

E9Q328

Predicted Effect

probably benign
Transcript: ENSMUST00000075020

SMART Domains

Protein: ENSMUSP00000074539
Gene: ENSMUSG00000094113

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	100	116	N/A	INTRINSIC
low complexity region	118	166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161385

SMART Domains

Protein: ENSMUSP00000125129
Gene: ENSMUSG00000094113

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	100	116	N/A	INTRINSIC
low complexity region	118	166	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

94% (65/69)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	CTGCTG	CTGCTGTGGATGCTG	1: 82,913,585		probably benign	Het
Abca1	G	T	4: 53,049,125	T1651N	probably damaging	Het
Adamtsl3	A	G	7: 82,612,395	T40A		Het
Adgra3	A	T	5: 50,013,387		probably null	Het
Apcs	A	T	1: 172,894,242	M179K	probably damaging	Het
Baiap2	G	A	11: 119,996,529	E217K	possibly damaging	Het
Ccdc69	A	G	11: 55,060,523	L24P	probably damaging	Het
Cdh16	T	G	8: 104,617,052	N604T	probably damaging	Het
Cfb	C	T	17: 34,858,046	V538I	possibly damaging	Het
Col6a3	A	G	1: 90,811,262	S1022P	probably benign	Het
Cpeb1	A	G	7: 81,361,806	L129S	possibly damaging	Het
Crybg1	A	G	10: 44,004,745	V149A	probably benign	Het
Cyp4f16	C	A	17: 32,545,195		probably null	Het
Dlg5	G	A	14: 24,158,493	Q882*	probably null	Het
Fsip2	T	A	2: 82,992,532	I6203K	probably benign	Het
Gabre	CCGGCT	CCGGCTACGGCT	X: 72,270,045		probably null	Het
Gm17660	A	C	5: 104,074,859		probably null	Het
Gm9513	T	C	9: 36,475,674	S13P	possibly damaging	Het
Gprc5d	A	T	6: 135,116,519	L130Q	probably damaging	Het
H13	G	A	2: 152,669,669	E30K	probably damaging	Het
Hmcn1	T	A	1: 150,635,146	K3609*	probably null	Het
Hsdl2	GCTGCAG	GCTGCAGCAGCAGCCACATCTGCAG	4: 59,610,652		probably benign	Het
Kl	A	C	5: 150,953,420	Y235S	probably benign	Het
Map6d1	G	A	16: 20,241,000	T105I	probably benign	Het
Mast4	GGTGGTGGTGG	GGTGGTGGTGGTGGTGG	13: 102,736,307		probably benign	Het
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,273,573		probably benign	Het
Mms22l	A	G	4: 24,517,207	I363V	probably benign	Het
Myo7a	T	C	7: 98,093,617	I391V	probably benign	Het
Nab2	A	T	10: 127,664,364	D286E	probably benign	Het
Nrxn1	G	A	17: 90,362,876	R1144C	probably damaging	Het
Olfr1039	T	C	2: 86,131,070	M198V	probably benign	Het
Olfr592	T	C	7: 103,186,691	I30T	possibly damaging	Het
Olfr635	A	G	7: 103,979,561	D123G	probably damaging	Het
Pan2	G	A	10: 128,315,535	E842K	probably benign	Het
Prex2	A	C	1: 11,185,166	D1145A	possibly damaging	Het
Prop1	A	C	11: 50,951,130	Y150D	possibly damaging	Het
Prp2	AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	6: 132,600,501		probably benign	Het
Psip1	T	C	4: 83,460,498	I353M	probably damaging	Het
Rapgef1	C	A	2: 29,707,195		probably null	Het
Rgl1	G	A	1: 152,521,363	S684L	probably benign	Het
Sbf2	T	A	7: 110,317,008	D1552V	probably damaging	Het
Serpinh1	C	T	7: 99,346,203	V391M	probably damaging	Het
Slc35e4	A	T	11: 3,907,960	L215Q	possibly damaging	Het
Tbl3	TCTT	TCTTCTT	17: 24,702,541		probably benign	Het
Tex15	T	A	8: 33,576,677	M2045K	probably benign	Het
Tmprss15	T	C	16: 78,953,801	*1070W	probably null	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,649,750		probably benign	Het
Trav15-2-dv6-2	GGAG	GGAGGAG	14: 53,649,751		probably benign	Het
Trav15-2-dv6-2	GAA	GAACAA	14: 53,649,754		probably benign	Het
Trim33	GCCCCGGCCCCCG	GCCCCG	3: 103,280,212		probably null	Het
Triobp	GACAA	GACAACCCCAGGACTCCCTGTGCCCAACGGAACAA	15: 78,967,061		probably benign	Het
Tub	C	A	7: 109,022,639	Q95K	probably benign	Het
Uhrf1bp1	A	T	17: 27,885,531	D517V	probably damaging	Het
Usp9y	T	A	Y: 1,435,046	Q261L	probably benign	Het
Utp20	A	T	10: 88,825,457	D29E	probably damaging	Het
Vill	G	A	9: 119,060,439	V148M	probably damaging	Het
Vmn2r120	C	T	17: 57,521,991	E535K	possibly damaging	Het
Zfp451	A	T	1: 33,776,792	Y692*	probably null	Het
Zfp599	A	C	9: 22,253,884	V65G	probably benign	Het
Zfp808	T	C	13: 62,171,299	V114A	probably benign	Het
Znrd1as	CACCACCACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCACCACCAC	17: 36,965,048		probably benign	Het

Other mutations in 5430401F13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02737:5430401F13Rik	APN	6	131552592	missense	probably benign	0.14
R0866:5430401F13Rik	UTSW	6	131552779	missense	unknown
R1674:5430401F13Rik	UTSW	6	131552803	missense	unknown
R6374:5430401F13Rik	UTSW	6	131552929	missense	unknown
R6671:5430401F13Rik	UTSW	6	131551350	critical splice donor site	probably null
R7150:5430401F13Rik	UTSW	6	131552667	missense	probably benign	0.16
RF014:5430401F13Rik	UTSW	6	131552857	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552856	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552859	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552861	small insertion	probably benign
RF023:5430401F13Rik	UTSW	6	131552855	small insertion	probably benign
RF023:5430401F13Rik	UTSW	6	131552878	small insertion	probably benign
RF029:5430401F13Rik	UTSW	6	131552895	small insertion	probably benign
RF037:5430401F13Rik	UTSW	6	131552887	small insertion	probably benign
RF037:5430401F13Rik	UTSW	6	131552888	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552873	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552892	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552894	small insertion	probably benign
RF042:5430401F13Rik	UTSW	6	131552886	small insertion	probably benign
RF058:5430401F13Rik	UTSW	6	131552887	small insertion	probably benign
RF058:5430401F13Rik	UTSW	6	131552901	small insertion	probably benign
RF063:5430401F13Rik	UTSW	6	131552883	small insertion	probably benign
RF063:5430401F13Rik	UTSW	6	131552884	small insertion	probably benign
X0062:5430401F13Rik	UTSW	6	131552638	missense	probably benign	0.29
Z1177:5430401F13Rik	UTSW	6	131552721	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- AGGAAGCCATCAAGTCCAAG -3'
(R):5'- TTTGCTCTGAGGGAATCACTGG -3'

Sequencing Primer
(F):5'- CGAAGCTCTGATGATGACAACTTG -3'
(R):5'- CACTGGAGACCATCTTTAGTAGG -3'

Posted On

2019-12-04